histidinemia

August 12, 2017 17:51 | Genetic Diseases

disease described in 1961, it is transmitted in an autosomal recessive inheritance and is caused by deficiency of an enzyme gistidazy.This enzyme is found in the body in its quantity primarily in the liver and the surface layer of the skin, is involved in the metabolism of amino acids histidine, translating it into urocanic acid.The existence of multiple variants of the disease: a deficiency of the enzyme in the liver and skin, a deficiency of the enzyme in the liver and its normal activity in the skin.As a result, the amino acid metabolic disorders it comes accumulation in tissues and body fluids.In addition, the body builds up a large number of toxic acids which are histidine derivatives.The disease belongs to the screening.Mass screening for histidinemia carried out in different countries.

signs of illness appear in a child is usually on the first and second years of life.Typical signs include delay the symptoms of psychomotor and speech development, decreased muscle tone, convulsions.In older chil

dren the fore intellectual disorders and speech disorders.Most of the sick children have characteristic external features: blond hair, blue eyes.

Due to the fact that as a result of mass screening in different regions of the world was revealed a certain number of children with gipergistidinemiey flowing without any symptoms, the question arises: is not this a disease harmless biochemical disorder?However, recent studies have confirmed the relationship of metabolic disturbances and damage to the nervous system.

histidinemia The diagnosis is established on the basis of a high level of this amino acid in the blood and urine, appears inadequate reaction of the organism to the load with histidine, is to increase its content in serum and urine.Special methods established decrease in the activity of the enzyme in the skin gistidazy.Furthermore, there are methods of determining the enzyme in the liver.The last two methods are specific studies and performed only in highly specialized hospitals for the study of hereditary diseases.

for prenatal diagnosis of the disease it is possible to determine the activity gistidazy cells in the amniotic fluid.

disease treatment as well as in the case of phenylketonuria, consists mainly in a diet restricted histidine amino acids.In this case, reducing the likelihood of a child only to convulsions, while the probability of intelligence and speech disorders remained at the same level.